Neuralgic Amyotrophy 2.0

8/18/2019 Neuralgic Amyotrophy 2.0

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Neuralgic Amyotrophy

GROUP MEMBERS:


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Objective-Based Questions

Students should be able to answer:

• How do people inherit hereditary neuralgic amyotro

• How common is hereditary neuralgic amyotrophy?

•

What genes are related to hereditary neuralgic amy• What other names do people use or hereditary neur

amyotrophy?


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#ont!d

• Neuralgic Amyotrophy is a rare as well unusual disoo the peripheral nervous system $%N&'" (he disordecharacteri)ed by sharp and sudden onsets o e*crucpain in the upper e*tremity"

• Neuralgic Amyotrophy is also characteri)ed by itsmultiocal properties$a+ects many sites,locations' anslow recovery timeline"


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What is Hereditary Neuralgic

Amyotrophy?• Neuralgic Amyotrophy $NA' comes about in two wa

• Hereditary Neuralgic Amyotrophy as the nameNeuralgic Amyotrophy $NA' that one will in

chromosom


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HNA #ont!d

• Because HNA is inheritedthrough genes on speci.cchromosomes a lot is stillun/nown and still beingdiscovered about the

mechanisms and triggers"

• However it is accepted thatthe &0%( 1 2ene onchromosome 34 playscontributory role in HNA"


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Other names used or Hereditary

Neuralgic Amyotrophy5ist o 6re7uently usedNames8• 6amilial brachial ple*us neuritis

• Hereditary brachial ple*us neuropathy

• Heredoamilial neuritis with brachial ple*us predilection

• Brachial %le*us Neuritis

•&houlder 2irdle Neuropathy


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&peci.cs on the 2enetics o

Hereditary Neuralgic Amyotroph


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#ont!d

• :t is generally accepted that HNA and its characteristics are heavily impacted by themutations o the septin 1 $&0%(1' gene this gene is on #hromosome 34"

• (he &0%(1 gene provides instructions or ma/ing a protein /nown as septin-1"

• (his belongs to a group o proteins /nown as septins which are involved in cyto/inesis"

(he &0%(1 gene is locthe long $7' arm o chr34 at position ;


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How are changes in &0%( 1 genrelated to health conditions?

• When &tudies involving generations o a amily with a /nhistory o HNA were conducted it was discovered thatmutations o the &0%( 1 gene were ound within the pareBecause Hereditary Neuralgic Amyotrophy is a conditionis autosomal dominant based persons who have HNA mu

have this &0%( 1 gene mutation"(he most common orm o this mutation is /nown as the&0%( 1 =>>W mutation what happens is that the amino arginine is replaced with the amino acid tryptophan atposition >> in the septin-1- protein se7uence"


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#ont!

• (he e*act way in which this mutation gives rise to Hstill not /nown researchers however theori)e thatbecause o the similarities in terms o triggers or Ha+ecting the immune system@ there may very well be

autoimmune reaction or this disorder"• But the relation o the &0%(1 gene mutations and im

unctions are still unclear and need to be utherinvestigated"


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5i/ely outcomes with and witho

treatment• (he treatment o Hereditary Neuralgic Amyotrophy$

is directed toward the speci.c symptoms that areapparent in each individual"

• (reatment may re7uire the coordinated e+orts o a t

o specialists" ost patients will need a team consiso a $pediatric' neurologist@ physiatrist@ physical therand occupational therapist"


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%hysical (herapy

• %hysical therapy or patients with brachial neuritis sbe ocused on the maintenance o ull range o motio$=O' in the shoulder and other a+ected joints"

• %assive =O $%=O' and active =O $A=O' e*er

should begin as soon as the patients pain has beenade7uately controlled"


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#onservative (reatment

Approach• :n combination with physical therapy based methods

medication is also used to treat NA" (he aim o the#onservative (reatment Approach is to combine phytherapy with medicine"

• :t should be noted that the conservative approach isthe early stages o patient care that is at the start,oo the symptoms@ the individual with HNA will use stpain /illers or pain relie"


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Non-#onservative Approach

$&urgical %rocedures'• :t should be noted that this is only done ater ailure

improve the a+ected areas or a period o more than years" (he surgical procedure will involve correctininjured nerves such that they start to unction norm

• (he surgical approach is only used in rare cases whethe condition does not show any sign o improvemennot the go to method or treating neuralgic amyotro


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=eerences

• Brachial Neuritis (reatment D anagement8 =ehabilitation %rogram@ edical :ssues,#omp&urgical :ntervention" $n"d"'" =etrieved rom http8,,emedicine"medscape"com,article,E33

• Brachial NeuritisF#ausesF&ymptomsF(reatmentF=ecoveryF%rognosis" $n"d"'" =etrieved romhttp8,,www"epainassist"com,sports-injuries,upper-bac/-and-nec/-injuries,brachial-neuritis-oneuralgic-amyotrophy

• #onservative (reatment e.nition F Bac/ %ain and Nec/ %ain edical 2lossary" $n"d"'" =etrhttp8,,www"spine-health"com,glossary,conservative-treatment

•Hereditary Neuralgic Amyotrophy - NO= $National Organi)ation or =are isorders'" $n"d=etrieved rom http8,,rarediseases"org,rare-diseases,hereditary-neuralgic-amyotrophy,

• &0%(1 - septin 1 - 2enetics Home =eerence" $n"d"'" =etrieved romhttps8,,ghr"nlm"nih"gov,gene,&0%(1

• &eptin 1 gene and hereditary neuralgic amyotrophy" $n"d"'" =etrieved romhttp8,,www"medscape"com,viewarticle,E

Neuralgic Amyotrophy 2.0

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